For a recessive disorder, a mutation causing dysfunction of a gene must be inherited from both parents.

It is important to note that the number of carriers for such diseases is always much higher than the number of affected individuals. For example, for more than 90% of babies born with cystic fibrosis in Australia, there is no prior family history of the disease. Cystic fibrosis and thalassaemia are the two recessive diseases for which there is a high existing level of awareness, and prenatal testing is often offered. In the case of cystic fibrosis,there are about 1 million carriers of the mutated dysfunctiona gene in Auatralia, but only about 4000 people living with the disease. One in 25 healthy individuals of Northern European background are carriers of a cystic fibrosis mutation. Carrier status can be determined from a simple, selfdeterminstered cheek brush swab(figure 2). Either partner can be screened in the first instance. Most, but not all, carriers will be detecte, and thus screening reduces but does not completely eliminate the chance of being a cystic fibrosis carrier. If there is a family history of a condition or a person comes from an ethicgroup at risk of specific conditions, the state or territory genetic services will usually carry out the DNA screening test among family members for free. In the absence of a family history, there is currently noMedicare rebate for screening, so out-of-pocket cost are incurred. Ethnicity and our Multicultural Population Beta-Thalassaemia is commonin Mediterranean countries such as Cyprus,Greece and Italy and in the Middle East, and both alpha-thalassaemia and(to a lesser extent) beta thalassaemia are common in South East Asian countries such as Thailand and parts of Vietnam and China. Many people now come to Australia from the Indian subcontinent, and in some regions of India,both thalassaemia and sickle cell anaemia are found. Tay-Sachs disease in particularly common in Ashkenazi Jews, and children who attend Jewish schools in New South Wales and Victoria are usually tested for carrier status between the ages of 16 and 18 years. Thirty years ago, it might have been possible to use names as a predictor of ethnicity, but to day, there are many Smiths and Andersons with genes from Italian or Greek grandparents.A couple may no longer be aware of a risk due to ethnicity until they are counseled by their GP or obstetrician. Some cultures place a high social value on marriages between cousins. Cousins are more likely to share a genetic mutation(about one chance in eight for first cousins) than unrelated individuas because they are closely related. The risk of birth defect occurring in a marriage between cousins is therefore double that in the woder population, but even then risk of having a defect in only about 6 % compared with 3 % in the general population. The risk is increased, bur not by as much as is often thought.